Canonical Allele Identifier: CA577029557

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 551949
• ClinVar RCV Id: RCV000667126
• dbSNP Id: rs1436250461
• gnomAD v2: 7-107303738-C-G
• gnomAD v4: 7-107663293-C-G
• MyVariant Identifiers: chr7:g.107303738C>G (hg19) ; chr7:g.107663293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107663293C>G , CM000669.2:g.107663293C>G	GRCh38
NC_000007.13:g.107303738C>G , CM000669.1:g.107303738C>G	GRCh37
NC_000007.12:g.107090974C>G	NCBI36
NG_008489.1:g.7659C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.165-3C>G MANE Select	ENSP00000494017.1:n.165-3C>G
ENST00000265715.7:c.165-3C>G	ENSP00000265715.3:n.165-3C>G
ENST00000440056.1:c.165-3C>G	ENSP00000394760.1:n.165-3C>G
NM_000441.1:c.165-3C>G	NP_000432.1:n.165-3C>G
XM_005250425.1:c.165-3C>G	XP_005250482.1:n.165-3C>G
XM_006716025.2:c.165-3C>G	XP_006716088.1:n.165-3C>G
XM_005250425.2:c.165-3C>G	XP_005250482.1:n.165-3C>G
XM_006716025.3:c.165-3C>G	XP_006716088.1:n.165-3C>G
XM_017012318.1:c.165-3C>G	XP_016867807.1:n.165-3C>G
NM_000441.2:c.165-3C>G MANE Select	NP_000432.1:n.165-3C>G